{"Name":"Brachyolmia","DiseaseID__c":"GARD:0010903","id":10903,"encodedName":"brachyolmia","IsDeleted":false,"Disease_Name_Full__c":"Brachyolmia","Xref_IDs__c":"254088006; C0432228; C537098; DOID:0050690; MEDGEN:96584; MONDO:0015262; ORPHA:1293","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015262","Disease_Description__c":"Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.","GARD_Name__c":"Brachyolmia","GARD_Synonym__c":"brachyrachia","Curated_Disease_Description_Source__c":"MONDO:0015262","Curated_Disease_Description__c":"Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1293","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015262","ORPHANET_ID__c":"ORPHA:1293","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquiolmia","Spanish_Description_Source__c":"ORPHA:1293","Spanish_Description__c":"Es un grupo de trastornos óseos clínica y genéticamente heterogéneos y poco frecuentes caracterizados por tronco corto, leve talla baja, escoliosis y platispondilia generalizada sin anomalías significativas de los huesos largos.","Spanish_Disease_Name__c":"braquiolmia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.","Curated_Disease_Description_Source__c":"MONDO:0015262","GARD_Synonym__c":"brachyrachia","Name":"Brachyolmia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1293"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1293","Source__c":"C0432228; MONDO:0015262; ORPHA:1293","Xref__c":"ORPHA:1293"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254088006","Source__c":"C0432228; MONDO:0015262","Xref__c":"254088006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432228","Source__c":"C0432228","Xref__c":"C0432228"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050690","Source__c":"MONDO:0015262","Xref__c":"DOID:0050690"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96584","Source__c":"C0432228","Xref__c":"MEDGEN:96584"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537098","Source__c":"MONDO:0015262","Xref__c":"C537098"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015262","Source__c":"GARD:0010903","Xref__c":"MONDO:0015262"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["brachyrachia"]}